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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Buschke-Ollendorff syndrome
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Accession:DOID:0111536 term browser browse the term
Definition:A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3. (DO)
Synonyms:exact_synonym: BOS;   Dermatofibrosis lenticularis disseminata with osteopoikilosis;   Dermatoosteopoikilosis;   dermatofibrosis lenticularis disseminata;   disseminated dermatofibrosis with osteopoikilosis;   osteopathia condensans disseminata
 related_synonym: DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED;   OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS;   OSTEOPOIKILOSIS, ISOLATED;   osteopoikilosis with melorheostosis
 primary_id: MESH:C537415
 alt_id: OMIM:166700
 xref: GARD:1044;   ORDO:1306


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Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutation:cds:c.2203C>T(human)
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS		 OMIM
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553840, RGD:11553842, RGD:11553843, RGD:11553844 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Buschke-Ollendorff syndrome 2
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      musculoskeletal system disease 8196
        connective tissue disease 5725
          bone disease 4227
            bone development disease 2299
              osteochondrodysplasia 840
                osteosclerosis 56
                  Osteopoikilosis 2
                    Buschke-Ollendorff syndrome 2
paths to the root